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GENATLAS PHENOTYPE
last update : 06-06-2019
Symbol GDD
Location 11p14.3
Name gnathodiaphyseal dysplasia
Other name(s)
  • osteogenesis imperfecta with unusual skeletal lesions
  • gnathodiaphyseal sclerosis
  • Corresponding gene ANO5
    Main clinical features
  • rare skeletal syndrome, characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name transmembrane protein 16E
    Remark(s)